Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 30 Records) |
Query Trace: DSC2[original query] |
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A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Molecular genetics and metabolism 0 95 (1-2): 74-80. Posch Maximilian G, Posch Matthias J, Geier Christian, Erdmann Bettina, Mueller Wolf, Richter Anette, Ruppert Volker, Pankuweit Sabine, Maisch Bernhard, Perrot Andreas, Buttgereit Jens, Dietz Rainer, Haverkamp Wilhelm, Ozcelik Cem |
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. Cardiovascular genetics 2009 Oct 2 (5): 428-35. den Haan A Dénise, Tan Boon Yew, Zikusoka Michelle N, Lladó Laura Ibañez, Jain Rahul, Daly Amy, Tichnell Crystal, James Cynthia, Amat-Alarcon Nuria, Abraham Theodore, Russell Stuart D, Bluemke David A, Calkins Hugh, Dalal Darshan, Judge Daniel |
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Circulation. Cardiovascular genetics 2009 Oct 2 (5): 418-27. Bhuiyan Zahurul A, Jongbloed Jan D H, van der Smagt Jasper, Lombardi Paola M, Wiesfeld Ans C P, Nelen Marcel, Schouten Meyke, Jongbloed Roselie, Cox Moniek G P J, van Wolferen Marleen, Rodriguez Luz M, van Gelder Isabelle C, Bikker Hennie, Suurmeijer Albert J H, van den Berg Maarten P, Mannens Marcel M A M, Hauer Richard N W, Wilde Arthur A M, van Tintelen J Pet |
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2010 Jun 12 (6): 861-8. Fressart Veronique, Duthoit Guillaume, Donal Erwan, Probst Vincent, Deharo Jean-Claude, Chevalier Philippe, Klug Didier, Dubourg Olivier, Delacretaz Etienne, Cosnay Pierre, Scanu Patrice, Extramiana Fabrice, Keller Dagmar, Hidden-Lucet Françoise, Simon Françoise, Bessirard Vanessa, Roux-Buisson Nathalie, Hebert Jean-Louis, Azarine Arshid, Casset-Senon Daniele, Rouzet François, Lecarpentier Yves, Fontaine Guy, Coirault Catherine, Frank Robert, Hainque Bernard, Charron Philip |
The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. European journal of human genetics : EJHG 2010 Jul 18 (7): 776-82. De Bortoli Marzia, Beffagna Giorgia, Bauce Barbara, Lorenzon Alessandra, Smaniotto Gessica, Rigato Ilaria, Calore Martina, Li Mura Ilena E A, Basso Cristina, Thiene Gaetano, Lanfranchi Gerolamo, Danieli Gian Antonio, Nava Andrea, Rampazzo Alessand |
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart rhythm : the official journal of the Heart Rhythm Society 2010 Jan 7 (1): 22-9. Bauce Barbara, Nava Andrea, Beffagna Giorgia, Basso Cristina, Lorenzon Alessandra, Smaniotto Gessica, De Bortoli Marzia, Rigato Ilaria, Mazzotti Elisa, Steriotis Alexandros, Marra Martina Perazzolo, Towbin Jeffry A, Thiene Gaetano, Danieli Gian Antonio, Rampazzo Alessand |
Population-prevalent desmosomal mutations predisposing to arrhythmogenic right ventricular cardiomyopathy. Heart rhythm : the official journal of the Heart Rhythm Society 2011 Aug 8 (8): 1214-21. Lahtinen Annukka M, Lehtonen Eero, Marjamaa Annukka, Kaartinen Maija, Heliö Tiina, Porthan Kimmo, Oikarinen Lasse, Toivonen Lauri, Swan Heikki, Jula Antti, Peltonen Leena, Palotie Aarno, Salomaa Veikko, Kontula Kim |
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. The American journal of cardiology 2013 Oct 112 (8): 1197-206. Groeneweg Judith A, van der Zwaag Paul A, Olde Nordkamp Louise R A, Bikker Hennie, Jongbloed Jan D H, Jongbloed Roselie, Wiesfeld Ans C P, Cox Moniek G P J, van der Heijden Jeroen F, Atsma Douwe E, de Boer Karin, Doevendans Pieter A, Vink Aryan, van Veen Toon A B, Dooijes Dennis, van den Berg Maarten P, Wilde Arthur A M, van Tintelen J Peter, Hauer Richard |
Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation journal : official journal of the Japanese Circulation Society 2013 77 (6): 1534-42. Ohno Seiko, Nagaoka Iori, Fukuyama Megumi, Kimura Hiromi, Itoh Hideki, Makiyama Takeru, Shimizu Akihiko, Horie Mino |
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. PloS one 2014 9 (6): e100560. Alcalde Mireia, Campuzano Oscar, Berne Paola, García-Pavía Pablo, Doltra Ada, Arbelo Elena, Sarquella-Brugada Georgia, Iglesias Anna, Alonso-Pulpon Luis, Brugada Josep, Brugada Ram |
Whole-genome sequencing of the world's oldest people. PloS one 2014 9 (11): e112430. Gierman Hinco J, Fortney Kristen, Roach Jared C, Coles Natalie S, Li Hong, Glusman Gustavo, Markov Glenn J, Smith Justin D, Hood Leroy, Coles L Stephen, Kim Stuart |
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy. The American journal of cardiology 2015 Jul . Lorenzon Alessandra, Pilichou Kalliopi, Rigato Ilaria, Vazza Giovanni, De Bortoli Marzia, Calore Martina, Occhi Gianluca, Carturan Elisa, Lazzarini Elisabetta, Cason Marco, Mazzotti Elisa, Poloni Giulia, Mostacciuolo Maria Luisa, Daliento Luciano, Thiene Gaetano, Corrado Domenico, Basso Cristina, Bauce Barbara, Rampazzo Alessand |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy. European journal of medical genetics 2015 Apr 58 (4): 258-65. Zhou Xiujuan, Chen Minglong, Song Hualian, Wang Benqi, Chen Hongwu, Wang Jing, Wang Wei, Feng Shangpeng, Zhang Fengxiang, Ju Weizhu, Li Mingfang, Gu Kai, Cao Kejiang, Wang Dao W, Yang Bi |
Epilepsy-related sudden unexpected death: targeted molecular analysis of inherited heart disease genes using next-generation DNA sequencing. Brain pathology (Zurich, Switzerland) 2016 May . Hata Yukiko, Yoshida Koji, Kinoshita Koshi, Nishida Nao |
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Familial cancer 2016 Jan . Spier Isabel, Kerick Martin, Drichel Dmitriy, Horpaopan Sukanya, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Adam Ronja, Zhao Bixiao, Becker Tim, Lifton Richard P, Holinski-Feder Elke, Perner Sven, Thiele Holger, Nöthen Markus M, Hoffmann Per, Timmermann Bernd, Schweiger Michal R, Aretz Stef |
Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia. PloS one 2017 8 12 (8): e0181840. Fedida Joel, Fressart Veronique, Charron Philippe, Surget Elodie, Hery Tiphaine, Richard Pascale, Donal Erwan, Keren Boris, Duthoit Guillaume, Hidden-Lucet Françoise, Villard Eric, Gandjbakhch Estel |
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients. Circulation. Arrhythmia and electrophysiology 2017 10 10 (10): . Pilichou Kalliopi, Lazzarini Elisabetta, Rigato Ilaria, Celeghin Rudy, De Bortoli Marzia, Perazzolo Marra Marina, Cason Marco, Jongbloed Jan, Calore Martina, Rizzo Stefania, Regazzo Daniela, Poloni Giulia, Iliceto Sabino, Daliento Luciano, Delise Pietro, Corrado Domenico, Van Tintelen J Peter, Thiene Gaetano, Rampazzo Alessandra, Basso Cristina, Bauce Barbara, Lorenzon Alessandra, Occhi Gianlu |
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database. European journal of human genetics : EJHG 2018 5 26 (9): 1312-1318. Hall Charlotte L, Sutanto Henry, Dalageorgou Chrysoula, McKenna William John, Syrris Petros, Futema Mar |
Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy. Journal of cardiovascular development and disease 2018 1 4 (2): . Serie Daniel J, Crook Julia E, Necela Brian M, Axenfeld Bianca C, Dockter Travis J, Colon-Otero Gerardo, Perez Edith A, Thompson E Aubrey, Norton Nadi |
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo. Circulation. Genomic and precision medicine 2019 8 12 (8): e002467. van Lint Freyja H M, Murray Brittney, Tichnell Crystal, Zwart Rob, Amat Nuria, Lekanne Deprez Ronald H, Dittmann Sven, Stallmeyer Birgit, Calkins Hugh, van der Smagt Jasper J, van den Wijngaard Arthur, Dooijes Dennis, van der Zwaag Paul A, Schulze-Bahr Eric, Judge Daniel P, Jongbloed Jan D H, van Tintelen J Peter, James Cynthia |
Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 4 32 (9): 1281-1290. Hata Yukiko, Hirono Keiichi, Yamaguchi Yoshiaki, Ichida Fukiko, Oku Yuko, Nishida Nao |
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features. The Canadian journal of cardiology 2021 Sep . Wu Guixin, Liu Jie, Ruan Jieyun, Yu Shiqin, Wang Limei, Zhao Shihua, Wang Shuiyun, Kang Lianming, Wang Jizheng, Song L |
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure. Journal of medical genetics 2021 8 59 (9): 858-864. Christensen Alex Hørby, Platonov Pyotr G, Jensen Henrik Kjærulf, Chivulescu Monica, Svensson Anneli, Dahlberg Pia, Madsen Trine, Frederiksen Tanja Charlotte, Heliö Tiina, Lie Øyvind Haugen, Haugaa Kristina H, Hastrup Svendsen Jesper, Bundgaard Henni |
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction. Frontiers in cardiovascular medicine 2021 6 8 635141. Leone Maria Pia, Palumbo Pietro, Saenen Johan, Mastroianno Sandra, Castellana Stefano, Amico Cesare, Mazza Tommaso, Potenza Domenico Rosario, Petracca Antonio, Castori Marco, Carella Massimo, Di Stolfo Giusep |
Seven Glycolysis-Related Genes Predict the Prognosis of Patients With Pancreatic Cancer. Frontiers in cell and developmental biology 2021 4 9 647106. Nie Han, Luo Cancan, Liao Kaili, Xu Jiasheng, Cheng Xue-Xin, Wang Xiaozho |
Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy. Clinical and translational medicine 2021 3 11 (3): e319. Moreau Adrien, Reisqs Jean-Baptiste, Delanoe-Ayari Helene, Pierre Marion, Janin Alexandre, Deliniere Antoine, Bessière Francis, Meli Albano C, Charrabi Azzouz, Lafont Estele, Valla Camille, Bauer Delphine, Morel Elodie, Gache Vincent, Millat Gilles, Nissan Xavier, Faucherre Adele, Jopling Chris, Richard Sylvain, Mejat Alexandre, Chevalier Philip |
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients. Journal of personalized medicine 2022 Aug 12 (8): . Hutchcraft Megan Leigh, Zhang Shulin, Lin Nan, Gottschalk Ginny Lee, Keck James W, Belcher Elizabeth A, Sears Catherine, Wang Chi, Liu Kun, Dietz Lauren E, Pickarski Justine C, Wei Sainan, Cardarelli Roberto, DiPaola Robert S, Kolesar Jill |
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management. Human mutation 2022 7 43 (9): 1333-1342. Goudal Adeline, Karakachoff Matilde, Lindenbaum Pierre, Baron Estelle, Bonnaud Stéphanie, Kyndt Florence, Arnaud Marine, Minois Damien, Bourcereau Emmanuelle, Thollet Aurélie, Deleuze Jean-François, Genin Emmanuelle, Wiart François, Pasquié Jean-Luc, Galand Vincent, Sacher Frédéric, Dina Christian, Redon Richard, Bezieau Stéphane, Schott Jean-Jacques, Probst Vincent, Barc Juli |
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. NPJ genomic medicine 2022 3 7 (1): 18. Lesurf Robert, Said Abdelrahman, Akinrinade Oyediran, Breckpot Jeroen, Delfosse Kathleen, Liu Ting, Yao Roderick, Persad Gabrielle, McKenna Fintan, Noche Ramil R, Oliveros Winona, Mattioli Kaia, Shah Shreya, Miron Anastasia, Yang Qian, Meng Guoliang, Yue Michelle Chan Seng, Sung Wilson W L, Thiruvahindrapuram Bhooma, Lougheed Jane, Oechslin Erwin, Mondal Tapas, Bergin Lynn, Smythe John, Jayappa Shashank, Rao Vinay J, Shenthar Jayaprakash, Dhandapany Perundurai S, Semsarian Christopher, Weintraub Robert G, Bagnall Richard D, Ingles Jodie, , Melé Marta, Maass Philipp G, Ellis James, Scherer Stephen W, Mital See |
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